Two cases of MEN1 gene mutation-induced multiple endocrine neoplasia type 1 and analysis of their pedigrees / 中华内分泌代谢杂志

ABSTRACT

Objective To determine the relationship between MEN1 gene mutations and occurrence of multiple endocrine neoplasia type 1 and their inherited characteristics. Methods Genomic DNA was extracted from the peripheral blood lymphocytes of patients and other family members. PCR was performed to amplify all 10 exons of MEN1 gene. The PCR products were directly sequenced. Subclone sequencing was performed to identify the heterozygosity. Results An 18 base pairs of insertion(372-373 insACCTGTCTATCATCGCCG) was identified in one family and a 4 base pairs of deletion (357-360delCTGT) in the other family, both mutations occurred in exon 2 of MEN1 gene in the patients, and the former was a new mutation. Conclusion The MEN1 gene mutations were identified in two Chinese families with multiple endocrine neoplasia type 1, in one of which a novel mutation of MEN1 gene (372-373insACCTGTCTATCATCGCCG) was detected.